I11N (p.Ile11Asn) variant of RYR2 (Ryanodine receptor 2)
I11N (p.Ile11Asn) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I11N (p.Ile11Asn) variant details
- p.Ile11Asn
- gnomAD 1-237042553-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.61
- MetaLR 0.88
- MetaSVM 0.63
- CADD 25.90
- PolyPhen-2 0.48
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available